Concepedia

Karin Tuschl

KT

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Publications

19

Citations

1.9K

H-Index

16

Active since

2004

Affiliations

University College London(Current)

Great Ormond Street Hospital

King's College London

University of Sussex

Swansea University

Karin Tuschl is an author at University College London specializing in medicine, health sciences, and physiology.

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Publications per year

2004–2022

19

Publications

19

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

Karin Tuschl, Peter T. Clayton, Sídney M. Gospe et al. · The American Journal of Human Genetics · 2012 · 374 citations · Full text

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Karin Tuschl, Esther Meyer, Leonardo E. Valdivia et al. · Nature Communications · 2016 · 312 citations · Full text

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Philippa B. Mills, Emma Footitt, Kevin Mills et al. · Brain · 2010 · 263 citations · Full text

Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry

Margareta Holub, Karin Tuschl, Rene Ratschmann et al. · Clinica Chimica Acta · 2006 · 138 citations

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Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder

Karin Tuschl, Philippa B. Mills, Howard Parsons et al. · Journal of Inherited Metabolic Disease · 2008 · 128 citations

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